P252: Development of a scoring system to define lysosomal diseases
Main Authors: | , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-01-01
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Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424002942 |
_version_ | 1797267505773805568 |
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author | Matheus Wilke Jenny Goldstein Emily Groopman Shruthi Mohan Amber Waddell Raquel Fernandez Hongjie Chen Deeksha Bali Heather Baudet Lorne Clarke Christina Hung Rong Mao Tatiana Yuzyuk William Craigen Filippo Pinto e Vairo |
author_facet | Matheus Wilke Jenny Goldstein Emily Groopman Shruthi Mohan Amber Waddell Raquel Fernandez Hongjie Chen Deeksha Bali Heather Baudet Lorne Clarke Christina Hung Rong Mao Tatiana Yuzyuk William Craigen Filippo Pinto e Vairo |
author_sort | Matheus Wilke |
collection | DOAJ |
first_indexed | 2024-04-25T01:17:39Z |
format | Article |
id | doaj.art-1cd58182024b48cfacc41ea8e4d2a0cd |
institution | Directory Open Access Journal |
issn | 2949-7744 |
language | English |
last_indexed | 2024-04-25T01:17:39Z |
publishDate | 2024-01-01 |
publisher | Elsevier |
record_format | Article |
series | Genetics in Medicine Open |
spelling | doaj.art-1cd58182024b48cfacc41ea8e4d2a0cd2024-03-09T09:31:23ZengElsevierGenetics in Medicine Open2949-77442024-01-012101148P252: Development of a scoring system to define lysosomal diseasesMatheus Wilke0Jenny Goldstein1Emily Groopman2Shruthi Mohan3Amber Waddell4Raquel Fernandez5Hongjie Chen6Deeksha Bali7Heather Baudet8Lorne Clarke9Christina Hung10Rong Mao11Tatiana Yuzyuk12William Craigen13Filippo Pinto e Vairo14Mayo ClinicUniversity of North Carolina at Chapel Hill, Chapel Hill, NCChildren’s National Hospital, Washington, DCUniversity of North Carolina at Chapel Hill, Chapel Hill, NCUniversity of North Carolina at Chapel Hill, Chapel Hill, NCAmerican College of Medical Genetics and Genomics, Bethesda, MDPreventionGenetics/Exact Sciences, Marshfield, WIDuke University Health System, Durham, NCUniversity of North Carolina at Chapel Hill, Chapel Hill, NCUniversity of British Columbia, Vancouver, CanadaInvitae, San Francisco, CAARUP, Salt Lake City, UT and University of Utah, Salt Lake City, UTARUP, Salt Lake City, UTBaylor College of Medicine, Houston, TXMayo Clinic, Rochester, MNhttp://www.sciencedirect.com/science/article/pii/S2949774424002942 |
spellingShingle | Matheus Wilke Jenny Goldstein Emily Groopman Shruthi Mohan Amber Waddell Raquel Fernandez Hongjie Chen Deeksha Bali Heather Baudet Lorne Clarke Christina Hung Rong Mao Tatiana Yuzyuk William Craigen Filippo Pinto e Vairo P252: Development of a scoring system to define lysosomal diseases Genetics in Medicine Open |
title | P252: Development of a scoring system to define lysosomal diseases |
title_full | P252: Development of a scoring system to define lysosomal diseases |
title_fullStr | P252: Development of a scoring system to define lysosomal diseases |
title_full_unstemmed | P252: Development of a scoring system to define lysosomal diseases |
title_short | P252: Development of a scoring system to define lysosomal diseases |
title_sort | p252 development of a scoring system to define lysosomal diseases |
url | http://www.sciencedirect.com/science/article/pii/S2949774424002942 |
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